Hs07089493_cn

• Gene Symbol: NRL
• Assay Reference Genome Location: Chr.14:24094697 on build GRCh38
• Cytoband: 14q11.2

Target Gene Details

• Entrez Gene ID: 4901
• Gene Name: neural retina leucine zipper
• Gene Aliases: D14S46E, NRL-MAF, RP27
• Location: Chr.14:24078693-24114924 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NRL	XM_005267708.4			XP_005267765.1
	XM_005267710.3			XP_005267767.1
	XM_011536801.2			XP_011535103.2
	XM_011536802.1			XP_011535104.1
	XM_011536806.2			XP_011535108.2
	XM_017021350.1			XP_016876839.1
	BX161381.1			CAD61873.1
	BX161522.1			CAD61954.1

Target Gene Details

• Entrez Gene ID: 5106
• Gene Name: phosphoenolpyruvate carboxykinase 2, mitochondrial
• Gene Aliases: PEPCK, PEPCK-M, PEPCK2
• Location: Chr.14:24094131-24104132 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCK2	NM_001018073.2			NP_001018083.2
	NM_001291556.1			NP_001278485.1
	NM_001308054.1	1	417	NP_001294983.1
	NM_004563.3			NP_004554.3
	XM_006720158.2			XP_006720221.1
	AK129934.1
	AK301400.1
	AK307913.1	1	385
	AK311710.1	1	387
	AK316206.1
	BC001454.2			AAH01454.1
	BQ957219.1	1	374
	BX248272.1			CAD62600.1
	CR456913.1			CAG33194.1
	DA645036.1	1	418
	DB028389.1
	HY022221.1
	KU178243.1
	KU178244.1
	KU178245.1
	X92720.1			CAA63380.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv564057	Chr.14:24056425 - 24149650 on Build GRCh38	Loss	EMC9 PCK2 MIR7703 DCAF11 FITM1 CPNE6 NRL PSME1 CARMIL3 PSME2 RNF31

More Information

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

basic leucine zipper transcription factor, kinase

Gene Ontology Categories:

Process(es)

transcription from RNA polymerase II promoter
regulation of rhodopsin gene expression
visual perception
positive regulation of rhodopsin gene expression
positive regulation of transcription from RNA polymerase II promoter
retinal rod cell development
response to stimulus
gluconeogenesis

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
DNA binding
protein binding
leucine zipper domain binding
phosphoenolpyruvate carboxykinase activity
phosphoenolpyruvate carboxykinase (GTP) activity
GTP binding
metal ion binding